AdeleSchneiderMDFACMG

PubMed

• 1 citations
  Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.
  Linda M Reis, Huban Atilla, Peter Kannu, Adele Schneider, Samuel Thompson, Tanya Bardakjian, Elena V Semina> ;Genes. 2023 Jan 14
• Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
  Amani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P-W Chiang, Anamaria Akapito Yomai, Donna McNear, Alex V Levin> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 3 citations
  ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.
  Linda M Reis, Nicolas Chassaing, Tanya Bardakjian, Samuel Thompson, Adele Schneider, Elena V Semina> ;European Journal of Human Genetics. 2023 Mar 1
• 3 citations
  De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
  Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouf...> ;Journal of Medical Genetics. 2021 Oct 1
• 8 citations
  Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
  Louise Amlie-Wolf, Tanya Bardakjian, Sarina Kopinsky, Linda M. Reis, Elena V. Semina, Adele Schneider> ;American Journal of Medical Genetics. Part A. 2021 Sep 25
• 7 citations
  Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
  Linda M. Reis, Elena A. Sorokina, Lubica Dudakova, Jana Moravikova, Pavlina Skalicka, Frantisek Malinka, Sarah E Seese, Samuel Thompson, Tanya Bardakjian, Jenina E. Ca...> ;Human Molecular Genetics. 2021 Aug 12
• 6 citations
  Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
  Linda M. Reis, Deborah M. Costakos, Patricia G. Wheeler, Tanya Bardakjian, Adele Schneider, Simon S M Fung, Elena V. Semina> ;Clinical Genetics. 2021 Mar 1
• 5 citations
  Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
  Celia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, Marta Corton, Ana Arteche, Carmen Ayuso, Adele Schneider, Dimitra Zafeiropoulou, Christian Gilissen, Olivier Roche, F...> ;Journal of Human Genetics. 2020 Feb 3
• 7 citations
  Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation
  Louise Amlie-Wolf, Sue Moyer-Harasink, Ann-Marie Carr, Philip F Giampietro, Adele Schneider, Mitchell Simon> ;American Journal of Medical Genetics. Part A. 2020 Jan 5
• 1 citations
  Ophthalmic manifestations associated with RARB mutations.
  Nutsuchar Wangtiraumnuay, Sarina Kopinsky, Prashanth Iyer, Jenina E. Capasso, Rick Whitehead, Adele Schneider, Alex V. Levin> ;Clinical Dysmorphology. 2019 Jan 1
• 1 citations
  Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
  Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, L...> ;Plos Genetics. 2018 Dec 1
• 11 citations
  Ocular manifestations of PACS1 mutation.
  Maria Pefkianaki, Adele Schneider, Jenina E. Capasso, Barry N. Wasserman, Tanya Bardakjian, Alex V. Levin> ;Journal of AAPOS. 2018 Aug 1
• 4 citations
  A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
  Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-Yan Kwok, Anne Slavotinek> ;American Journal of Ophthalmology Case Reports. 2017 Sep 1
• 10 citations
  Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
  Ehsan Ullah, Di Wu, Lohith Madireddy, Richard Lao, P. Ling-Fung Tang, Eunice Wan, Tanya Bardakjian, Sarina Kopinsky, Pui-Yan Kwok, Adele Schneider, Sergio E. Baranzini...> ;Ophthalmic Genetics. 2017 Jul 1
• 7 citations
  Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
  Kathleen M. Gorman, Sally Ann Lynch, Adele Schneider, Dorothy K. Grange, Kathleen A. Williamson, David R. FitzPatrick, Mary D. King> ;American Journal of Medical Genetics. Part A. 2016 Nov 1
• 31 citations
  Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
  Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Lévesque, Marie Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon Sattler, M...> ;Human Mutation. 2016 Aug 1
• 53 citations
  Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects
  Anne Slavotinek, S.T. Garcia, G. Chandratillake, Tanya Bardakjian, Ehsan Ullah, Di Wu, K. Umeda, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Lohith Madireddy, Svetla...> ;Clinical Genetics. 2015 Nov 1
• 48 citations
  Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
  Christopher M. Chou, Christine C. Nelson, Susan A. Tarlé, Jonathan T. Pribila, Tanya Bardakjian, Sean Woods, Adele Schneider, Thomas M Glaser> ;Cell. 2015 Apr 23
• 234 citations
  Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of...
  Janice G. Edwards, Gerald L. Feldman, James D. Goldberg, Anthony R. Gregg, Mary E. Norton, Nancy C. Rose, Adele Schneider, Katie Stoll, Ronald J. Wapner, Michael S. Wa...> ;Obstetrics and Gynecology. 2015 Mar 1
• 37 citations
  Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
  Alex Choi, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Wasima Mayer, Tanya Bardakjian, Gary M. Shaw, Pui-Yan Kwok, Adele Schneider, Anne Slavotinek> ;European Journal of Human Genetics. 2015 Mar 1
• 18 citations
  Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome
  F. Ezgu, Pavel Krejci, S. Li, C de Sousa, John M. Graham, I. Hansmann, W. He, K. Porpora, D. Wand, Wladimir Wertelecki, Adele Schneider, William R. Wilcox> ;Clinical Genetics. 2014 Jul 1
• 8 citations
  Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Dis...
  Jessica R. L. Warsch, Sean Warsch, Elizabeth Herman, L. Zakarin, Adele Schneider, Jodi D. Hoffman, Deborah Wasserman, Deborah Barbouth> ;Journal of Community Genetics. 2014 Jan 12
• 37 citations
  Whole-genome copy number variation analysis in anophthalmia and microphthalmia
  Kala F. Schilter, Linda M. Reis, Adele Schneider, Tanya Bardakjian, Omar A. Abdul-Rahman, Beth A. Kozel, Holly H. Zimmerman, Ulrich Broeckel, Elena V. Semina> ;Clinical Genetics. 2013 Nov 1
• 59 citations
  ALDH1A3 Loss of Function Causes Bilateral Anophthalmia/Microphthalmia and Hypoplasia of the Optic Nerve and Optic Chiasm
  Mani Yahyavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada...> ;Human Molecular Genetics. 2013 Aug 15
• 157 citations
  ACMG position statement on prenatal/preconception expanded carrier screening
  Wayne W. Grody, Barry H. Thompson, Anthony R. Gregg, Lora J. H. Bean, Kristin G. Monaghan, Adele Schneider, Roger V. Lebo> ;Genetics in Medicine. 2013 Apr 25
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